Familial Hypercholesterolaemia in Children and Adolescents: Current and Future Perspectives

Abstract

Abstract: Familial hypercholesterolemia (FH) is a genetic disease, the underlying cause of which is represented by mutations capable of influencing the metabolism of low-density lipoproteins (LDL). The distinguishing characteristic of FH is increased LDL cholesterol blood levels since birth which trigger early development of atherosclerosis-related diseases. Diagnosis of FH is frequently either missed or made with a considerable delay. Prompt identification of the disease is pivotal in implementing early prevention measures. Safe and effective drugs have been approved for use in children and adolescents, with statins, with or without ezetimibe, representing first-line therapy. At times, however, these medications may not be sufficient to achieve the therapeutic target, particularly in homozygous FH patients. In such cases, lipoprotein apheresis, which has proved to be safe and efficient, is strongly suggested. New drugs still at the investigational stage may represent a promising and personalised therapy. The lowering of cholesterol levels in childhood hampers the formation of arterial atherosclerotic plaques, thus reducing cardiovascular events later in life. Accordingly, early detection, diagnosis, and therapy in FH subjects are priority aims.